Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
Thiart
R
R
Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
Loubser
O
O
de Villiers
J N
JN
Marx
M P
MP
Zaire
R
R
Raal
F J
FJ
Kotze
M J
MJ
D019943:Amino Acid Substitution; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005858:Germany; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
D018388:Codon, Terminator; D011973:Receptors, LDL; D004247:DNA